DEF6

Chr 6

DEF6 guanine nucleotide exchange factor

Also known as: IBP, IMD87, SLAT, SWAP70L

NCBI Gene: 50619ENSG00000023892UniProt: Q01524

DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
immunodeficiency 87 and autoimmunity · ARModerateconsider for supplementary testing
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.26
LOEUF· LoF intol.
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.26LOEUF
pLI 0.998
Z-score 4.89
OE 0.11 (0.06–0.26)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
3.03Z-score
OE missense 0.56 (0.50–0.63)
208 obs / 372.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.11 (0.06–0.26)
0≤0.351.4
Missense OE?0.56 (0.50–0.63)
0≤0.61.4
Synonymous OE?0.84
0≤1.21.6
LoF obs/exp: 4 / 35.4Missense obs/exp: 208 / 372.3Syn Z: 1.57

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DEF6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients